Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: MLH1: 1276C>T; Gln426Ter
Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.
Frontiers In Oncology
Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X
Publication Date: 2022
Variant appearance in text: MLH1: 1276C>T; Gln426Ter
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Cancers
Frostberg, Erik E; Petersen, Annabeth Høgh AH; Bojesen, Anders A; Rahr, Hans Bjarke HB; Lindebjerg, Jan J; Rønlund, Karina K
Publication Date: 2021-10-12
Variant appearance in text: MLH1: 1276C>T; Gln426Ter
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: MLH1: 1276C>T; Gln426*; rs63750316
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017
Variant appearance in text: MLH1: 1276C>T; Gln426*
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
Plos One
Carneiro da Silva, Felipe F; Ferreira, José Roberto de Oliveira JR; Torrezan, Giovana Tardin GT; Figueiredo, Márcia Cristina Pena MC; Santos, Érika Maria Monteiro ÉM; Nakagawa, Wilson Toshihiko WT; Brianese, Rafael Canfield RC; Petrolini de Oliveira, Ligia L; Begnani, Maria Dirlei MD; Aguiar-Junior, Samuel S; Rossi, Benedito Mauro BM; Ferreira, Fábio de Oliveira Fde O; Carraro, Dirce Maria DM
Publication Date: 2015
Variant appearance in text: MLH1: 1276C>T; Gln426*
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
Bmc Medical Genetics
Petersen, Sanne M SM; Dandanell, Mette M; Rasmussen, Lene J LJ; Gerdes, Anne-Marie AM; Krogh, Lotte N LN; Bernstein, Inge I; Okkels, Henrik H; Wikman, Friedrik F; Nielsen, Finn C FC; Hansen, Thomas V O TV
Publication Date: 2013-10-03
Variant appearance in text: MLH1: 1276C>T; Gln426X